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01. Segregation of DFNB49 with congenital sensorineural bilateral profound hearing loss

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Title: 01. Segregation of DFNB49 with congenital sensorineural bilateral profound hearing loss

Authors: Nazir Ahmad, Muhammad Qasim, Zubair M. Ahmedand Sheikh Riazuddin

Journal: Pure and Applied Biology (PAB)

HEC Recognition History
Category From To
Y 2024-10-01 2025-12-31
Y 2022-07-01 2023-06-30

Publisher: Bolan Society for Pure and Applied Biology

Country: Pakistan

Year: 2021

Volume: 4

Issue: 2

Language: en

Categories
Hearing Loss (41) Genetics (16287) Auditory Neuroscience (2) Medical Genetics (249) Human Genetics (48)

Abstract

Deafness is a complete or partial loss of hearing. In Pakistan, the prevalence of this order is high as compared to the other countries because of frequent consanguineous marriages in Pakistan. During present study, DFNB49 was mapped in two unrelated consanguineous families having multiple affected individuals. The maximum LOD score was found 4.71 and 2.74 for PKDF1069 & PKDF751 respectively. This study reveals genetic heterogeneity of this clinically heterogeneous disorder.Keywords: Deafness; DFNB49; Linkage Analysis
http://dx.doi.org/10.19045/bspab.2015.42001

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